Associated Papers
Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies.
Araújo de Melo Campos JT et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
Towards a mechanistic understanding of lipodystrophy and seipin functions.
Wee K et al.
Bioscience Reports, 2014
Lipodystrophy and muscular dystrophy caused by PTRF mutations.
de Haan W
Clinical Genetics, 2010
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.
Rajab A et al.
Plos Genetics, 2010
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
Hayashi YK et al.
The Journal of Clinical Investigation, 2009
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